Canonical Allele Identifier: CA2201614523
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362054G= , CM000678.2:g.1362054G= GRCh38
NC_000016.9:g.1412055G= , CM000678.1:g.1412055G= GRCh37
NC_000016.8:g.1352056G= NCBI36
NG_016985.1:g.15156G=
NG_033129.1:g.57651C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.433G=
ENST00000529110.2:c.418G= ENSP00000435349.2:p.Glu140=
ENST00000529957.6:n.392G=
ENST00000683366.1:c.*66G= ENSP00000507283.1:n.*66G=
ENST00000683887.1:c.382G= ENSP00000506886.1:p.Glu128=
ENST00000684100.1:n.328G=
ENST00000684126.1:n.392G=
ENST00000684688.1:n.959G=
ENST00000204679.9:c.334G= MANE Select ENSP00000204679.4:p.Glu112=
ENST00000204679.8:c.334G= ENSP00000204679.4:p.Glu112=
ENST00000526820.5:c.*236G= ENSP00000434413.1:n.*236G=
ENST00000527076.1:n.1350G=
ENST00000527168.5:n.370G=
ENST00000529110.1:c.401G=
ENST00000529957.5:n.433G=
NM_032520.4:c.334G= NP_115909.1:p.Glu112=
XM_017023782.1:c.382G= XP_016879271.1:p.Glu128=
XM_017023783.1:c.-27G= XP_016879272.1:n.-27G=
NM_032520.5:c.334G= MANE Select NP_115909.1:p.Glu112=